Incidental Mutation 'R6748:Slc35f3'
ID |
530645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35f3
|
Ensembl Gene |
ENSMUSG00000057060 |
Gene Name |
solute carrier family 35, member F3 |
Synonyms |
B230375D17Rik |
MMRRC Submission |
044865-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R6748 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
126865734-127122717 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 127121377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 413
(R413*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108759]
|
AlphaFold |
Q1LZI2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000108759
AA Change: R413*
|
SMART Domains |
Protein: ENSMUSP00000104390 Gene: ENSMUSG00000057060 AA Change: R413*
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
49 |
N/A |
INTRINSIC |
Pfam:EamA
|
67 |
223 |
3.2e-7 |
PFAM |
Pfam:SLC35F
|
145 |
374 |
3.2e-6 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
C |
A |
1: 38,574,327 (GRCm39) |
R178I |
probably damaging |
Het |
Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
Atp8b3 |
A |
T |
10: 80,361,058 (GRCm39) |
M926K |
possibly damaging |
Het |
C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
Cyp2j8 |
T |
A |
4: 96,363,782 (GRCm39) |
T294S |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Il1rap |
A |
T |
16: 26,541,106 (GRCm39) |
N449I |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
Ppwd1 |
A |
T |
13: 104,344,538 (GRCm39) |
Y527* |
probably null |
Het |
Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
Ttc17 |
T |
C |
2: 94,216,447 (GRCm39) |
K80R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
probably damaging |
Het |
|
Other mutations in Slc35f3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00687:Slc35f3
|
APN |
8 |
127,108,903 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00956:Slc35f3
|
APN |
8 |
127,108,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01105:Slc35f3
|
APN |
8 |
127,025,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01710:Slc35f3
|
APN |
8 |
127,115,900 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01771:Slc35f3
|
APN |
8 |
127,115,951 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02254:Slc35f3
|
APN |
8 |
127,115,862 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02610:Slc35f3
|
APN |
8 |
127,047,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Slc35f3
|
UTSW |
8 |
127,115,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R2510:Slc35f3
|
UTSW |
8 |
127,025,445 (GRCm39) |
start gained |
probably benign |
|
R2520:Slc35f3
|
UTSW |
8 |
127,121,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3807:Slc35f3
|
UTSW |
8 |
127,115,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4644:Slc35f3
|
UTSW |
8 |
127,047,809 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4675:Slc35f3
|
UTSW |
8 |
127,047,935 (GRCm39) |
nonsense |
probably null |
|
R4976:Slc35f3
|
UTSW |
8 |
127,116,020 (GRCm39) |
splice site |
probably null |
|
R5037:Slc35f3
|
UTSW |
8 |
127,116,011 (GRCm39) |
missense |
probably damaging |
0.99 |
R5225:Slc35f3
|
UTSW |
8 |
127,117,846 (GRCm39) |
missense |
probably damaging |
0.98 |
R5259:Slc35f3
|
UTSW |
8 |
127,115,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5856:Slc35f3
|
UTSW |
8 |
127,047,819 (GRCm39) |
missense |
probably benign |
0.07 |
R5925:Slc35f3
|
UTSW |
8 |
127,115,946 (GRCm39) |
missense |
probably benign |
0.24 |
R6254:Slc35f3
|
UTSW |
8 |
127,047,833 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6785:Slc35f3
|
UTSW |
8 |
127,121,198 (GRCm39) |
missense |
probably benign |
0.02 |
R7002:Slc35f3
|
UTSW |
8 |
127,115,773 (GRCm39) |
critical splice acceptor site |
unknown |
|
R7291:Slc35f3
|
UTSW |
8 |
127,121,297 (GRCm39) |
missense |
probably benign |
0.02 |
R7411:Slc35f3
|
UTSW |
8 |
127,115,777 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7456:Slc35f3
|
UTSW |
8 |
127,115,779 (GRCm39) |
critical splice acceptor site |
unknown |
|
R7790:Slc35f3
|
UTSW |
8 |
127,115,777 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7852:Slc35f3
|
UTSW |
8 |
127,121,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R8000:Slc35f3
|
UTSW |
8 |
127,047,812 (GRCm39) |
missense |
probably benign |
|
R8277:Slc35f3
|
UTSW |
8 |
127,115,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8827:Slc35f3
|
UTSW |
8 |
127,115,780 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8983:Slc35f3
|
UTSW |
8 |
127,115,775 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9205:Slc35f3
|
UTSW |
8 |
127,115,928 (GRCm39) |
missense |
probably damaging |
0.96 |
R9355:Slc35f3
|
UTSW |
8 |
127,108,967 (GRCm39) |
missense |
probably damaging |
0.97 |
R9475:Slc35f3
|
UTSW |
8 |
127,108,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Slc35f3
|
UTSW |
8 |
127,048,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Slc35f3
|
UTSW |
8 |
127,115,781 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9729:Slc35f3
|
UTSW |
8 |
127,115,777 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9769:Slc35f3
|
UTSW |
8 |
127,121,336 (GRCm39) |
missense |
probably damaging |
0.99 |
X0067:Slc35f3
|
UTSW |
8 |
127,109,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCGATCACTACACCAGTCAG -3'
(R):5'- GGTCTGACGTGGAAAAGTGC -3'
Sequencing Primer
(F):5'- CAGTCAGATAGTCTTCAACGGGGTC -3'
(R):5'- TGCAAGCAAATTGGACATGCC -3'
|
Posted On |
2018-08-01 |